keyword
MENU ▼
Read by QxMD icon Read
search

Congenital cataract

keyword
https://www.readbyqxmd.com/read/28634705/how-does-pregnancy-affect-the-patients-with-pituitary-adenomas-a-study-on-113-pregnancies-from-turkey
#1
Z Karaca, S Yarman, I Ozbas, P Kadioglu, M Akturk, F Kilicli, H S Dokmetas, R Colak, H Atmaca, Z Canturk, Y Altuntas, N Ozbey, N Hatipoglu, F Tanriverdi, K Unluhizarci, F Kelestimur
OBJECTIVE: Data regarding pregnancies in relation to pituitary tumors are limited. The effects of pregnancy on pituitary adenomas and the effects of adenoma itself (hormonal activity, mass effects and pituitary insufficiency) and/or treatment on the ongoing gestation and developing fetus were evaluated. METHODS: The study was a retrospective study. A questionnaire involving questions regarding medical history before index gestation, history of related pregnancy, result of index gestation and postpartum follow-up of the patients was filled by the investigator in one of the eight Referral Endocrinology Centers from Turkey...
June 20, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28633137/incidence-and-characteristics-of-congenital-cataract-surgery-in-france-from-2010-to-2012-the-episafe-program
#2
Vincent Daien, Annick Le Pape, Didier Heve, Max Villain, Dominique Bremond Gignac
INTRODUCTION: Prevention of visual impairment due to congenital cataract is an international priority as part of VISION 2020 - The Right to Sight, the joint initiative of the World Health Organization and the International Agency for the Prevention of Blindness. The present study is part of the Epidemiology and Safety (EPISAFE) collaborative program aiming at assessing the epidemiology and safety of interventions in ophthalmology. METHODS: All children who underwent cataract surgery before the age of 1 year in France between January 2010 and December 2012 were identified by using the Programme de Médicalisation des Systèmes d'Information...
June 20, 2017: Ophthalmic Research
https://www.readbyqxmd.com/read/28624226/transcriptome-wide-investigation-of-mrna-circrna-in-mir-184-and-its-r-57c-u-mutant-type-treatment-of-human-lens-epithelial-cells
#3
Yueqiu Luo, Siyu Liu, Ke Yao
m-miR-184 (mutant miR-184, r.57c > u) appears in familial hereditary ocular diseases, including keratoconus, cataracts, EDICT (endothelial dystrophy, iris hypoplasia, congenital cataract, and stromal thinning) syndrome, severe keratoconus, and non-ectatic corneal thinning. The biological function of m-miR-184 in these ocular diseases remains unclear. With the emergence of high-throughput sequencing, it is now possible to discover many different biological components simultaneously. Using two different RNA libraries, we sequenced the complete transcriptome of HLE cells treated with miR-184, m-miR-184, and a negative control...
June 16, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28617521/regular-versus-releasable-sutures-in-surgery-for-primary-congenital-glaucoma
#4
Nader H Bayoumi
PURPOSE: To compare releasable and regular sutures in combined angle and filtering surgery for primary congenital glaucoma. METHODS: A prospective study was conducted on 39 eyes (26 right eyes) of 39 children (20 boys; 19 girls) who had primary congenital glaucoma treated with combined trabeculotomy-trabeculectomy with mitomycin C and scleral flap closure with regular or releasable sutures. Follow-up was 24 months. Success rates (defined as an intraocular pressure [IOP] < 16 mm Hg without hypotony-related complications and/or lack of IOP-related progression of the disease) were studied and complications were noted...
June 15, 2017: Journal of Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28612950/the-paediatric-cataract-register-pecare-an-overview-of-operated-childhood-cataract-in-sweden-and-denmark
#5
Gunilla Magnusson, Birgitte Haargaard, Saima Basit, Anna Lundvall, Alf Nyström, Annika Rosensvärd, Kristina Tornqvist
AIM: To report basic epidemiological data concerning surgically treated childhood cataract in Sweden and Denmark. METHODS: Data were derived from the Paediatric Cataract Register (PECARE), a binational, web-based surgical register representing Sweden and Denmark. All children operated before 8 years of age between 1 January 2007 and 31 December 2013 were included. Age-specific prevalence per 100 000 population was calculated. RESULTS: A total 574 operations in 213 boys (51...
June 14, 2017: Acta Ophthalmologica
https://www.readbyqxmd.com/read/28611923/a-novel-ube2a-mutation-causes-x-linked-intellectual-disability-type-nascimento
#6
Yoshinori Tsurusaki, Ikuko Ohashi, Yumi Enomoto, Takuya Naruto, Jun Mitsui, Noriko Aida, Kenji Kurosawa
X-linked intellectual disability (ID) type Nascimento (MIM #300860), also known as ubiquitin-conjugating enzyme E2 A (UBE2A) deficiency syndrome, is a congenital malformation syndrome characterized by moderate to severe ID, speech impairment, dysmorphic facial features, genital anomalies and skin abnormalities. Here, we report a Japanese patient with severe ID and congenital cataract. We identified a novel hemizygous mutation (c.76G>A, p.Gly26Arg) in UBE2A by whole-exome sequencing.
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28611546/inherited-congenital-cataract-a-guide-to-suspect-the-genetic-etiology-in-the-cataract-genesis
#7
REVIEW
Olga Messina-Baas, Sergio A Cuevas-Covarrubias
Cataracts are the principal cause of treatable blindness worldwide. Inherited congenital cataract (CC) shows all types of inheritance patterns in a syndromic and nonsyndromic form. There are more than 100 genes associated with cataract with a predominance of autosomal dominant inheritance. A cataract is defined as an opacity of the lens producing a variation of the refractive index of the lens. This variation derives from modifications in the lens structure resulting in light scattering, frequently a consequence of a significant concentration of high-molecular-weight protein aggregates...
March 2017: Molecular Syndromology
https://www.readbyqxmd.com/read/28602329/central-corneal-thickness-and-intraocular-pressure-changes-after-congenital-cataract-surgery-with-intraocular-lens-implantation-in%C3%A2-children-younger-than-2%C3%A2-years
#8
Jaspreet Sukhija, Savleen Kaur
PURPOSE: To evaluate the change in central corneal thickness (CCT) and intraocular pressure (IOP) preoperatively to postoperatively in children younger than 2 years of age having surgery with primary intraocular lens (IOL) implantation for congenital cataract. SETTING: Tertiary care institute, Chandigarh, India. DESIGN: Prospective case series. METHODS: Children younger than 2 years old who had phacoaspiration with IOL implantation were studied...
May 2017: Journal of Cataract and Refractive Surgery
https://www.readbyqxmd.com/read/28594466/bleeding-is-not-the-main-clinical-issue-in-many-patients-with-inherited-thrombocytopaenias
#9
REVIEW
F Melazzini, C Zaninetti, C L Balduini
Bleeding diathesis has been considered for a long time the main clinical issue impacting the lives of patients affected by inherited thrombocytopaenias. However, the number of known inherited thrombocytopaenias greatly increased in recent years, and careful evaluation of hundreds of patients affected by these 'new' disorders revealed that most of them are at risk of developing additional life-threatening disorders during childhood or adult life. These additional disorders are usually more serious and dangerous than low platelet count...
June 8, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28585112/fine-mapping-of-chromosome-9-locus-associated-with-congenital-cataract
#10
Haiba Kaul, Shabbir Hussain, Ghulam Mustafa, Shagufta Naz
PURPOSE: The purpose of this study was to study the molecular basis of inherited autosomal recessive cataracts in Pakistan population and to identify the molecular defect segregating with the disease phenotype. METHODS: Families having two or more affected individuals were identified through hospital, blood samples were collected and DNA was extracted. We employed the traditional strategy of linkage analysis using M13-labeled primers to map the already known genes for autosomal recessive cataract...
June 5, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/28574137/iris-reconstruction-using-artificial-iris-prosthesis-for-management-of-aniridia
#11
Yehia S Mostafa, Amr A Osman, Dina H Hassanein, Ashraf M Zeid, Ahmed M Sherif
PURPOSE: To discuss the limitations and benefits of the BrightOcular prosthetic artificial iris device in management of aniridia associated with aphakia or cataract. METHODS: This is a retrospective study including 5 eyes of 4 patients who underwent implantation of the BrightOcular iris prosthesis (Stellar Devices) for total or partial aniridia. The cases included 2 eyes of 1 patient with congenital aniridia associated with congenital cataract and 3 eyes with traumatic aniridia: 1 with subluxated cataractous lens and 2 with aphakia...
May 27, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28574136/total-retinal-detachment-caused-by-a-kif11-mutation
#12
Jana Riedl, Urs Voβmerbäumer, Bernhard Stoffelns, Heike Elflein
PURPOSE: This is a case report of bilateral retinal detachment associated with KIF11 mutation. METHODS: In our university hospital, an 8-week-old patient presented with a potential bilateral congenital cataract, iris atrophy, and iridocorneal contact in the left eye. An examination revealed microcephaly and edema of the dorsa of the feet. The eye examination showed a clear lens in both eyes with a dislodged anterior chamber in the left eye with vessels drawn from the iris to the lens...
May 24, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28562390/myhre-syndrome-with-novel-findings-bilateral-congenital-cortical-cataract-bilateral-papilledema-accessory-nipple-and-adenoid-hypertrophy
#13
Haktan B Erdem, Ibrahim Sahin, Abdulgani Tatar
No abstract text is available yet for this article.
May 30, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28560045/correlation-of-neuter-status-and-expression-of-heritable-disorders
#14
Janelle M Belanger, Thomas P Bellumori, Danika L Bannasch, Thomas R Famula, Anita M Oberbauer
BACKGROUND: Gonadectomy, or neutering, is a very common surgery for dogs having many positive effects on behavior, health, and longevity. There are also certain risks associated with neutering including the development of orthopedic conditions, cognitive decline, and a predisposition to some neoplasias. This study was designed specifically to identify if a correlation exists between neuter status and inherited conditions in a large aggregate cohort of dogs representing many different breeds...
2017: Canine Genetics and Epidemiology
https://www.readbyqxmd.com/read/28544770/screening-genetics-risk-factors-and-treatment-of-neonatal-cataracts
#15
REVIEW
Jinyu Li, Chun-Hong Xia, Eddie Wang, Ke Yao, Xiaohua Gong
Neonatal cataracts remain the most common cause of visual loss in children worldwide and have diverse, often unknown, etiologies. This review summarizes current knowledge about the detection, treatment, genetics, risk factors, and molecular mechanisms of congenital cataracts. We emphasize significant progress and topics requiring further study in both clinical cataract therapy and basic lens research. Advances in genetic screening and surgical technologies have improved the diagnosis, management, and visual outcomes of affected children...
June 1, 2017: Birth defects research
https://www.readbyqxmd.com/read/28533387/emergence-of-categorical-face-perception-after-extended-early-onset-blindness
#16
Tapan K Gandhi, Amy Kalia Singh, Piyush Swami, Suma Ganesh, Pawan Sinha
It is unknown whether the ability to visually distinguish between faces and nonfaces is subject to a critical period during development. Would a congenitally blind child who gains sight several years after birth be able to acquire this skill? This question has remained unanswered because of the rarity of cases of late sight onset. We had the opportunity to work with five early-blind individuals who gained sight late in childhood after treatment for dense bilateral cataracts. We tested their ability to categorize patterns as faces, using natural images that spanned a spectrum of face semblance...
June 6, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28528950/effects-of-cataract-causing-mutations-w59c-and-w151c-on-%C3%AE-b2-crystallin-structure-stability-and-folding
#17
Wei-Jie Zhao, Jia Xu, Xiang-Jun Chen, Hui-Hui Liu, Ke Yao, Yong-Bin Yan
β/γ-Crystallins, the predominant structural proteins in vertebrate lens with lifelong stability to maintain lens transparency, share a high similarity in their primary sequences and tertiary structures. Four conserved Trp residues have been shown to be important to γ-crystallin structure, stability and protection against UV irradiation, whereas their roles in β-crystallins remain elusive. Herein we found that two congenital cataract-causing mutations, W59C and W151C, dramatically decreased βB2-crystallin solubility and stability against thermal and guanidine hydrochloride-induced denaturation...
May 19, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/28526010/next-generation-sequencing-for-d47n-mutation-in-cx50-analysis-associated-with-autosomal-dominant-congenital-cataract-in-a-six-generation-chinese-family
#18
Chao Shen, Jingbing Wang, Xiaotang Wu, Fuchao Wang, Yang Liu, Xiaoying Guo, Lina Zhang, Yanfei Cao, Xiuhua Cao, Hongxing Ma
BACKGROUND: Congenital cataract is the most frequent cause of blindness during infancy or early childhood. To date, more than 40 loci associated with congenital cataract have been identified, including at least 26 genes on different chromosomes associated with inherited cataract. This present study aimed to identify the genetic mutation in a six-generation Chinese family affected with congenital cataract. METHODS: A detailed six-generation Chinese cataract family history and clinical data of the family members were recorded...
May 19, 2017: BMC Ophthalmology
https://www.readbyqxmd.com/read/28524149/-morphological-features-of-clinical-manifestations-of-particular-congenital-lens-and-vitreous-anomalies
#19
S I Kharlap, A R Salikhova, K S Avetisov, S Е Avetisov
The review covers general clinical features of particular congenital anomalies of the human eye associated with its abnormal embryonic development. Principal literature sources on evaluation of congenital changes in the vitreous body and identification of its 'underdevelopment' in certain types of congenital cataracts have been studied. The said changes were analyzed with account to general pathology of the human body as well as local morphological manifestations. Covered is the time period from the end of the XIX century to the present...
2017: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/28507388/congenital-nuclear-cataracts-in-a-holstein-dairy-herd
#20
Stephanie Osinchuk, Lyall Petrie, Marina Leis, Fritz Schumann, Bianca Bauer, Lynne Sandmeyer, Kayla Madder, Fiona Buchanan, Bruce Grahn
This report describes congenital nuclear cataracts and posterior lenticonus in a closed purebred Holstein dairy herd in Canada. Ophthalmic examinations were completed on 30 male and 249 female cattle aged newborn to 10 years old. Nutritional, infectious, and toxic etiologies were investigated. Necropsies of 3 affected calves were performed and eyes of 2 additional affected calves were examined with light microscopy. Bilateral nuclear cataracts were identified in 53/279 (19%) animals. Additional congenital anomalies observed included posterior lenticonus, iris to lens persistent pupillary membranes (n = 7), and lenticular colobomata (n = 1)...
May 2017: Canadian Veterinary Journal. la Revue Vétérinaire Canadienne
keyword
keyword
46385
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"